Schoenwolf, G, Brauer, BS, Francis-West, P. Larsen’s Human Embryology, 5th edn. Philadelphia: Elsevier, Churchill, Livingstone, 2014.
Viotti, M, Niu, L, Shi, S-H, Hadjantonakis, A-K. Role of the Gut Endoderm in Relaying Left-Right Patterning in Mice. PLoS Biol. 2012; 10: e1001276.
Fu, V, Plouffe, SW, Guan, KL. The Hippo pathway in organ development, homeostasis, and regeneration. Curr Opin Cell Biol. 2017; 49: 99–107.
Varelas, X. The Hippo pathway effectors TAZ and YAP in development, homeostasis and disease. Development. 2014; 141: 1614–26.
Shukla, V, Coumoul, X, Wang, RH, Kim, HS, Deng, CX. RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat Genet. 2007; 39: 1145–50.
Twigg, SR, Wilkie, AO. A Genetic-Pathophysiological Framework for Craniosynostosis. Am J Hum Genet. 2015; 97: 359–77.
Twigg, SR, Wilkie, AO. New insights into craniofacial malformations. Hum Mol Genet. 2015; 24: R50–9.
Lefebvre, S, Mikkola, ML. Ectodysplasin research—where to next? Sem Immunol. 2014; 26: 220–8.
Antonarakis, SE. Down syndrome and the complexity of genome dosage imbalance. Nat Rev Genet. 2017; 18: 147–63.
Das, I, Reeves, RH. The use of mouse models to understand and improve cognitive deficits in Down syndrome. Dis Model Mech. 2011; 4: 596–606.
Chambers, SM, Studer, L. Cell fate plug and play: direct reprogramming and induced pluripotency. Cell. 2011; 145: 827–30.
Clevers, H. Modeling Development and Disease with Organoids. Cell. 2016; 165: 1586–97.
Brown, J, Quadrato, G, Arlotta, P. Studying the Brain in a Dish: 3D Cell Culture Models of Human Brain Development and Disease. Curr Top Dev Biol. 2018; 129: 99–122.
Adli, M. The CRISPR tool kit for genome editing and beyond. Nat Commun. 2018; 9: 1911.
Zhang, C, Quan, R, Wang, J. Development and application of CRISPR/Cas9 technologies in genomic editing. Hum Mol Genet. 2018; 27: R79–88.
Takebe, T, Zhang, B, Radisic, M. Synergistic Engineering: Organoids Meet Organs-on-a-Chip. Cell Stem Cell. 2017; 21: 297–300.
Bier, E, De Robertis, EM. EMBRYO DEVELOPMENT. BMP gradients: A paradigm for morphogen-mediated developmental patterning. Science. 2015; 348: aaa5838.
White, RJ, Schilling, TF. How degrading: Cyp26s in hindbrain development. Dev Dyn. 2008; 237: 2775–90.
Zhou, Y, Liu, HX, Mistretta, CM. Bone morphogenetic proteins and noggin: inhibiting and inducing fungiform taste papilla development. Dev Biol. 2006; 297: 198–213.
Hamada, H, Tam, PP. Mechanisms of left-right asymmetry and patterning: driver, mediator and responder. F1000Prime Rep. 2014; 6: 110.
Chiang, C, Litingtung, Y, Lee, E, Young, KE, Corden, JL, Westphal, H, Beachy, PA. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature. 1996; 383: 407–13.
Teillet, M, Watanabe, Y, Jeffs, P, Duprez, D, Lapointe, F, Le Douarin, NM. Sonic hedgehog is required for survival of both myogenic and chondrogenic somitic lineages. Development. 1998; 125: 2019–30.
Tickle, C, Towers, M. Sonic Hedgehog Signaling in Limb Development. Front Cell Dev Biol. 2017; 5: 14.
Zhu, J, Mackem, S. John Saunders’ ZPA, Sonic hedgehog and digit identity – How does it really all work? Dev Biol. 2017; 429: 391–400.
Roessler, E, Muenke, M. The molecular genetics of holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010; 154C: 52–61.
Al-Qattan, MM. Zone of polarizing activity regulatory sequence mutations/duplications with preaxial polydactyly and longitudinal preaxial ray deficiency in the phenotype: a review of human cases, animal models, and insights regarding the pathogenesis. Biomed Res Int. 2018; 2018: 1573871.
Roessler, E, Hu, P, Muenke, M. Holoprosencephaly in the genomics era. Am J Med Genet C Semin Med Genet. 2018; 178: 165–74.
Petrov, K, Wierbowski, BM, Salic, A. Sending and receiving Hedgehog signals. Annu Rev Cell Dev Biol. 2017; 33: 145–68.
Elliott, KH, Brugmann, SA. Sending mixed signals: cilia-dependent signaling during development and disease. Dev Biol. 2019; 447: 28–41.
Briscoe, J, Small, S. Morphogen rules: design principles of gradient-mediated embryo patterning. Development. 2015; 142: 3996–4009.
Grainger, S, Willert, K. Mechanisms of Wnt signaling and control. Wiley Interdiscip Rev Syst Biol Med. 2018; e1422 [Epub ahead of print].
Butler, MT, Wallingford, JB. Planar cell polarity in development and disease. Nat Rev Mol Cell Biol. 2017; 18: 375–88.
Ulloa, F, Marti, E. Wnt won the war: antagonistic role of Wnt over Shh controls dorso-ventral patterning of the vertebrate neural tube. Dev Dyn. 2010; 239: 69–76.
Cairns, DM, Sato, ME, Lee, PG, Lassar, AB, Zeng, L. A gradient of Shh establishes mutually repressing somitic cell fates induced by Nkx3.2 and Pax3. Dev Biol. 2008; 323: 152–165.
Copp, AJ, Adzick, NS, Chitty, LS, Fletcher, JM, Holmbeck, GN, Shaw, GM. Spina bifida. Nat Rev Dis Primers. 2015; 1: 15007.
Yang, Y. Wnt signaling in development and disease. Cell Biosci. 2012; 2: 14.
Al-Qattan, MM. WNT pathways and upper limb anomalies. J Hand Surg Eur. 2011; 36: 9–22.
Weiss, A, Attisano, L. The TGFbeta superfamily signaling pathway. Wiley Interdiscip Rev Dev Biol. 2013; 2: 47–63.
Zinski, J, Tajer, B, Mullins, MC. TGF-beta Family Signaling in Early Vertebrate Development. Cold Spring Harb Perspect Biol. 2018; 10: pii: a033274.
Pla, P, Monsoro-Burq, AH. The Neural Border: Induction, Specification and Maturation of the territory that generates Neural Crest cells. Dev Biol. 2018; 444 (Suppl. 1): S36–46.
Dahn, RD, Fallon, JF. Interdigital regulation of digit identity and homeotic transformation by modulated BMP signaling. Science. 2000; 289: 438–41.
Kahata, K, Dadras, MS, Moustakas, A. TGF-beta Family Signaling in Epithelial Differentiation and Epithelial-Mesenchymal Transition. Cold Spring Harb Perspect Biol. 2018; 10: pii: a022194.
Wu, M, Chen, G, Li, YP. TGF-beta and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease. Bone Res. 2016; 4: 16009.
Stricker, S, Mundlos, S. Mechanisms of digit formation: Human malformation syndromes tell the story. Dev Dyn. 2011; 240: 990–1004.
Suzuki, S, Marazita, ML, Cooper, ME, Miwa, N, Hing, A, Jugessur, A, et al. Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet. 2009; 84: 406–11.
Josso, N, Belville, C, di Clemente, N, Picard, JY. AMH and AMH receptor defects in persistent Mullerian duct syndrome. Hum Reprod Update. 2005; 11: 351–6.
Ornitz, DM, Itoh, N. The Fibroblast Growth Factor signaling pathway. Wiley Interdiscip Rev Dev Biol. 2015; 4: 215–66.
Dorey, K, Amaya, E. FGF signalling: diverse roles during early vertebrate embryogenesis. Development. 2010; 137: 3731–42.
Bhagavath, B, Layman, LC. The genetics of hypogonadotropic hypogonadism. Semin Reprod Med. 2007; 25: 272–86.
Ornitz, DM, Legeai-Mallet, L. Achondroplasia: Development, pathogenesis, and therapy. Dev Dyn. 2017; 246: 291–309.
Bray, SJ. Notch signalling in context. Nat Rev Mol Cell Biol. 2016; 17: 722–35.
Sjoqvist, M, Andersson, ER. Do as I say, Not(ch) as I do: Lateral control of cell fate. Dev Biol. 2019; 447: 58–70.
Masek, J, Andersson, ER. The developmental biology of genetic Notch disorders. Development. 2017; 144: 1743–63.
Tossell, K, Kiecker, C, Wizenmann, A, Lang, E, Irving, C. Notch signalling stabilises boundary formation at the midbrain-hindbrain organiser. Development. 2011; 138: 3745–57.
Fre, S, Bardin, A, Robine, S, Louvard, D. Notch signaling in intestinal homeostasis across species: the cases of Drosophila, Zebrafish and the mouse. Exp Cell Res. 2011; 317: 2740–7.
Hori, K, Sen, A, Artavanis-Tsakonas, S. Notch signaling at a glance. J Cell Sci. 2013; 126: 2135–40.
Carrieri, FA, Dale, JK. Turn it down a notch. Front Cell Dev Biol. 2016; 4: 151.
Wahi, K, Bochter, MS, Cole, SE. The many roles of Notch signaling during vertebrate somitogenesis. Semin Cell Dev Biol. 2016; 49: 68–75.
Chiang, MY, Radojcic, V, Maillard, I. Oncogenic notch signaling in T-cell and B-cell lymphoproliferative disorders. Curr Opin Hematol. 2016; 23: 362–70.